LDS4
MCID: LYS017
MIFTS: 49

Loeys-Dietz Syndrome 4 (LDS4)

Categories: Bone diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Loeys-Dietz Syndrome 4

MalaCards integrated aliases for Loeys-Dietz Syndrome 4:

Name: Loeys-Dietz Syndrome 4 57 12 53 75 29 6 15 73
Lds4 57 12 75
Aneurysm, Aortic and Cerebral, with Arterial Tortuosity and Skeletal Manifestations 57 12
Aortic and Cerebral Aneurysm with Arterial Tortuosity and Skeletal Manifestations 75
Syndrome, Loeys-Dietz, Type 4 40
Loeys-Dietz Syndrome, Type 4 13
Loeys-Dietz Syndrome Type 4 53

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
patients do not have ectopia lentis


HPO:

32
loeys-dietz syndrome 4:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Loeys-Dietz Syndrome 4

UniProtKB/Swiss-Prot : 75 Loeys-Dietz syndrome 4: An aortic aneurysm syndrome with widespread systemic involvement. LDS4 is characterized by arterial tortuosity, aortic dissection, intracranial aneurysm and subarachnoid hemorrhage, hypertelorism, bifid uvula, pectus deformity, bicuspid aortic valve, arachnodactyly, scoliosis, foot deformities, dural ectasia, joint hyperflexibility, and thin skin with easy bruising and striae.

MalaCards based summary : Loeys-Dietz Syndrome 4, also known as lds4, is related to loeys-dietz syndrome and multilocular clear cell renal cell carcinoma, and has symptoms including wrist sign and steinberg thumb sign. An important gene associated with Loeys-Dietz Syndrome 4 is TGFB2 (Transforming Growth Factor Beta 2), and among its related pathways/superpathways are ERK Signaling and GPCR Pathway. Affiliated tissues include skin, bone and eye, and related phenotypes are hypertelorism and high palate

Disease Ontology : 12 A Loeys-Dietz syndrome that has material basis in heterozygous mutation in the TGFB2 gene on chromosome 1q41.

Description from OMIM: 614816

Related Diseases for Loeys-Dietz Syndrome 4

Diseases in the Loeys-Dietz Syndrome family:

Loeys-Dietz Syndrome 1 Loeys-Dietz Syndrome 2
Loeys-Dietz Syndrome 3 Loeys-Dietz Syndrome 4
Loeys-Dietz Syndrome 5

Diseases related to Loeys-Dietz Syndrome 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 24)
# Related Disease Score Top Affiliating Genes
1 loeys-dietz syndrome 29.6 SMAD3 TGFB2 TGFB2-AS1 TGFB3 TGFBR1 TGFBR2
2 multilocular clear cell renal cell carcinoma 10.1 TGFB2 TGFB3
3 tuberculoid leprosy 10.1 TGFB2 TGFB3
4 hypertrophic scars 10.0 SMAD3 TGFB3
5 keloids 10.0 SMAD3 TGFB3
6 hypochondrogenesis 10.0 SMAD3 TGFB3
7 mitral valve disease 10.0 TGFB2 TGFB3
8 peyronie's disease 9.9 SMAD3 TGFB2 TGFB3
9 transient hypogammaglobulinemia 9.9 TGFBR1 TGFBR2
10 cutis laxa, autosomal recessive, type ic 9.9 TGFBR1 TGFBR2
11 tendinosis 9.9 TGFB2 TGFBR2
12 multiple self-healing squamous epithelioma 9.8 TGFBR1 TGFBR2
13 autosomal recessive cutis laxa type i 9.8 TGFBR1 TGFBR2
14 eisenmenger syndrome 9.8 TGFBR1 TGFBR2
15 transient hypogammaglobulinemia of infancy 9.8 TGFBR1 TGFBR2
16 marfan syndrome 9.7 TGFBR1 TGFBR2
17 aortic disease 9.7 TGFB2 TGFBR1 TGFBR2
18 familial thoracic aortic aneurysm and dissection 9.7 SMAD3 TGFBR1 TGFBR2
19 osteoporosis 9.6 SMAD3 TGFB2 TGFBR1
20 loeys-dietz syndrome 3 9.5 SMAD3 TGFB2 TGFBR1 TGFBR2
21 loeys-dietz syndrome 1 9.5 SMAD3 TGFB2 TGFBR1 TGFBR2
22 aortic aneurysm, familial thoracic 1 9.5 SMAD3 TGFB2 TGFBR1 TGFBR2
23 aortic aneurysm 9.5 SMAD3 TGFB2 TGFBR1 TGFBR2
24 pancreatic cancer 9.5 SMAD3 TGFB2 TGFBR1 TGFBR2

Graphical network of the top 20 diseases related to Loeys-Dietz Syndrome 4:



Diseases related to Loeys-Dietz Syndrome 4

Symptoms & Phenotypes for Loeys-Dietz Syndrome 4

Symptoms via clinical synopsis from OMIM:

57
Skeletal Spine:
scoliosis
spondylolisthesis (rare)

Genitourinary External Genitalia Female:
inguinal hernia

Skeletal:
joint hyperflexibility
tall stature

Skeletal Hands:
arachnodactyly
steinberg thumb sign

Neurologic Central Nervous System:
dural ectasia

Head And Neck Mouth:
high-arched palate
broad or bifid uvula (in some patients)

Skin Nails Hair Skin:
easy bruising
skin striae

Chest Ribs Sternum Clavicles And Scapulae:
pectus deformity

Skeletal Pelvis:
protrusio acetabularis

Genitourinary External Genitalia Male:
inguinal hernia

Head And Neck Face:
retrognathia

Cardiovascular Vascular:
aortic dissection
arterial tortuosity
aortic root aneurysm
cerebrovascular aneurysm (in some patients)
fusiform dilation and tortuosity of cerebrovascular arteries

Cardiovascular Heart:
mitral valve prolapse
bicuspid aortic valve (rare)

Skeletal Feet:
flat feet
club feet (in some patients)

Head And Neck Eyes:
hypertelorism (in some patients)
downslanting palpebral fissures (in some patients)

Skeletal Limbs:
wrist sign

Respiratory Lung:
emphysema (rare)
pneumothorax (rare)


Clinical features from OMIM:

614816

Human phenotypes related to Loeys-Dietz Syndrome 4:

32 (show all 22)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 occasional (7.5%) HP:0000316
2 high palate 32 HP:0000218
3 scoliosis 32 HP:0002650
4 inguinal hernia 32 HP:0000023
5 pes planus 32 HP:0001763
6 emphysema 32 occasional (7.5%) HP:0002097
7 retrognathia 32 HP:0000278
8 joint hyperflexibility 32 HP:0005692
9 bicuspid aortic valve 32 occasional (7.5%) HP:0001647
10 aortic dissection 32 HP:0002647
11 talipes equinovarus 32 occasional (7.5%) HP:0001762
12 arachnodactyly 32 HP:0001166
13 mitral valve prolapse 32 HP:0001634
14 dural ectasia 32 HP:0100775
15 downslanted palpebral fissures 32 occasional (7.5%) HP:0000494
16 spondylolisthesis 32 occasional (7.5%) HP:0003302
17 bruising susceptibility 32 HP:0000978
18 tall stature 32 HP:0000098
19 abnormality of the sternum 32 HP:0000766
20 pneumothorax 32 occasional (7.5%) HP:0002107
21 arterial tortuosity 32 HP:0005116
22 aortic root aneurysm 32 HP:0002616

UMLS symptoms related to Loeys-Dietz Syndrome 4:


wrist sign, steinberg thumb sign

GenomeRNAi Phenotypes related to Loeys-Dietz Syndrome 4 according to GeneCards Suite gene sharing:

26 (show all 48)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 10 TGFBR2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 10 TGFB2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-141 10 TGFB2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 10 TGFBR2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 10 TGFBR2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 10 TGFBR1 TGFBR2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 10 TGFBR1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 10 TGFBR2
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 10 TGFBR1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-22 10 TGFBR1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 10 TGFB2
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 10 TGFBR2
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-59 10 TGFB2
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 10 TGFB2 TGFBR1 TGFBR2
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 10 TGFBR2
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-71 10 TGFB2
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 10 TGFB2
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-77 10 TGFBR1
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 10 TGFBR2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.84 TGFB2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.84 TGFB2 TGFBR1 TGFBR2
22 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.84 TGFB2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.84 TGFBR2
24 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.84 TGFBR2
25 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.84 TGFBR2
26 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.84 TGFBR2
27 Increased shRNA abundance (Z-score > 2) GR00366-A-133 9.84 TGFB2
28 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.84 TGFB2
29 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.84 TGFBR1 TGFBR2
30 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.84 TGFBR2
31 Increased shRNA abundance (Z-score > 2) GR00366-A-162 9.84 TGFBR2
32 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.84 TGFBR2
33 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.84 TGFBR1
34 Increased shRNA abundance (Z-score > 2) GR00366-A-186 9.84 TGFBR2
35 Increased shRNA abundance (Z-score > 2) GR00366-A-188 9.84 TGFBR2
36 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.84 TGFB2
37 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.84 TGFBR2
38 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.84 TGFB2
39 Increased shRNA abundance (Z-score > 2) GR00366-A-36 9.84 TGFBR1
40 Increased shRNA abundance (Z-score > 2) GR00366-A-37 9.84 TGFBR1
41 Increased shRNA abundance (Z-score > 2) GR00366-A-39 9.84 TGFBR2
42 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.84 TGFB2
43 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.84 TGFB2
44 Increased shRNA abundance (Z-score > 2) GR00366-A-7 9.84 TGFBR2
45 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.84 TGFB2 TGFBR2
46 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.84 TGFBR2
47 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.84 TGFBR1
48 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.84 TGFBR1

MGI Mouse Phenotypes related to Loeys-Dietz Syndrome 4:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.77 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
2 digestive/alimentary MP:0005381 9.65 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
3 craniofacial MP:0005382 9.62 SMAD3 TGFB2 TGFB3 TGFBR2
4 embryo MP:0005380 9.55 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
5 respiratory system MP:0005388 9.26 TGFB2 TGFB3 TGFBR1 TGFBR2
6 skeleton MP:0005390 9.02 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2

Drugs & Therapeutics for Loeys-Dietz Syndrome 4

Search Clinical Trials , NIH Clinical Center for Loeys-Dietz Syndrome 4

Genetic Tests for Loeys-Dietz Syndrome 4

Genetic tests related to Loeys-Dietz Syndrome 4:

# Genetic test Affiliating Genes
1 Loeys-Dietz Syndrome 4 29 TGFB2

Anatomical Context for Loeys-Dietz Syndrome 4

MalaCards organs/tissues related to Loeys-Dietz Syndrome 4:

41
Skin, Bone, Eye

Publications for Loeys-Dietz Syndrome 4

Articles related to Loeys-Dietz Syndrome 4:

# Title Authors Year
1
Phenotypic variability and diffuse arterial lesions in a family with Loeys-Dietz syndrome type 4. ( 27440102 )
2016
2
Loeys-Dietz syndrome type 4, caused by chromothripsis, involving the TGFB2 gene. ( 24440784 )
2014
3
Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation. ( 25163805 )
2014

Variations for Loeys-Dietz Syndrome 4

UniProtKB/Swiss-Prot genetic disease variations for Loeys-Dietz Syndrome 4:

75
# Symbol AA change Variation ID SNP ID
1 TGFB2 p.Arg299Trp VAR_068932 rs863223792
2 TGFB2 p.Arg302Cys VAR_068933 rs869312903
3 TGFB2 p.Pro338His VAR_068934 rs387907278

ClinVar genetic disease variations for Loeys-Dietz Syndrome 4:

6 (show top 50) (show all 212)
# Gene Variation Type Significance SNP ID Assembly Location
1 TGFB3 NM_003239.4(TGFB3): c.-30G> A single nucleotide variant Uncertain significance rs770828281 GRCh38 Chromosome 14, 75980923: 75980923
2 TGFB3 NM_003239.4(TGFB3): c.-30G> A single nucleotide variant Uncertain significance rs770828281 GRCh37 Chromosome 14, 76447266: 76447266
3 TGFB2 NM_001135599.3(TGFB2): c.771C> A (p.Cys257Ter) single nucleotide variant Pathogenic rs398122885 GRCh37 Chromosome 1, 218607723: 218607723
4 TGFB2 NM_001135599.3(TGFB2): c.771C> A (p.Cys257Ter) single nucleotide variant Pathogenic rs398122885 GRCh38 Chromosome 1, 218434381: 218434381
5 TGFB2 NM_001135599.3(TGFB2): c.1097C> A (p.Pro366His) single nucleotide variant Pathogenic rs387907278 GRCh37 Chromosome 1, 218610765: 218610765
6 TGFB2 NM_001135599.3(TGFB2): c.1097C> A (p.Pro366His) single nucleotide variant Pathogenic rs387907278 GRCh38 Chromosome 1, 218437423: 218437423
7 TGFB2 NM_001135599.3(TGFB2): c.294_308delCTACGCCAAGGAGGT (p.Ala100_Tyr104del) deletion Conflicting interpretations of pathogenicity rs398122883 GRCh37 Chromosome 1, 218520337: 218520351
8 TGFB2 NM_001135599.3(TGFB2): c.294_308delCTACGCCAAGGAGGT (p.Ala100_Tyr104del) deletion Conflicting interpretations of pathogenicity rs398122883 GRCh38 Chromosome 1, 218346995: 218347009
9 TGFB3 NM_003239.4(TGFB3): c.899G> A (p.Arg300Gln) single nucleotide variant Likely pathogenic rs587777617 GRCh37 Chromosome 14, 76429686: 76429686
10 TGFB3 NM_003239.4(TGFB3): c.899G> A (p.Arg300Gln) single nucleotide variant Likely pathogenic rs587777617 GRCh38 Chromosome 14, 75963343: 75963343
11 TGFB2 NM_001135599.2(TGFB2): c.703G> C (p.Val235Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs10482810 GRCh37 Chromosome 1, 218607532: 218607532
12 TGFB2 NM_001135599.2(TGFB2): c.703G> C (p.Val235Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs10482810 GRCh38 Chromosome 1, 218434190: 218434190
13 TGFB3 NM_003239.4(TGFB3): c.559G> A (p.Gly187Ser) single nucleotide variant Uncertain significance rs201063101 GRCh37 Chromosome 14, 76437556: 76437556
14 TGFB3 NM_003239.4(TGFB3): c.559G> A (p.Gly187Ser) single nucleotide variant Uncertain significance rs201063101 GRCh38 Chromosome 14, 75971213: 75971213
15 TGFB3 NM_003239.4(TGFB3): c.487C> T (p.Arg163Trp) single nucleotide variant Uncertain significance rs142601521 GRCh37 Chromosome 14, 76437927: 76437927
16 TGFB3 NM_003239.4(TGFB3): c.487C> T (p.Arg163Trp) single nucleotide variant Uncertain significance rs142601521 GRCh38 Chromosome 14, 75971584: 75971584
17 TGFB3 NM_003239.4(TGFB3): c.293C> T (p.Ser98Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs142047577 GRCh38 Chromosome 14, 75980601: 75980601
18 TGFB3 NM_003239.4(TGFB3): c.293C> T (p.Ser98Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs142047577 GRCh37 Chromosome 14, 76446944: 76446944
19 TGFB3 NM_003239.4(TGFB3): c.898C> T (p.Arg300Trp) single nucleotide variant Pathogenic rs796051885 GRCh37 Chromosome 14, 76429687: 76429687
20 TGFB3 NM_003239.4(TGFB3): c.898C> T (p.Arg300Trp) single nucleotide variant Pathogenic rs796051885 GRCh38 Chromosome 14, 75963344: 75963344
21 TGFB2 NM_003238.3(TGFB2): c.356C> T (p.Pro119Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs149533093 GRCh37 Chromosome 1, 218578520: 218578520
22 TGFB2 NM_003238.3(TGFB2): c.356C> T (p.Pro119Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs149533093 GRCh38 Chromosome 1, 218405178: 218405178
23 TGFB2 NM_003238.3(TGFB2): c.895C> T (p.Arg299Trp) single nucleotide variant Pathogenic/Likely pathogenic rs863223792 GRCh37 Chromosome 1, 218609452: 218609452
24 TGFB2 NM_003238.3(TGFB2): c.895C> T (p.Arg299Trp) single nucleotide variant Pathogenic/Likely pathogenic rs863223792 GRCh38 Chromosome 1, 218436110: 218436110
25 TGFB3 NM_003239.4(TGFB3): c.521T> A (p.Leu174His) single nucleotide variant Uncertain significance rs869025534 GRCh38 Chromosome 14, 75971251: 75971251
26 TGFB3 NM_003239.4(TGFB3): c.521T> A (p.Leu174His) single nucleotide variant Uncertain significance rs869025534 GRCh37 Chromosome 14, 76437594: 76437594
27 TGFB2 NM_001135599.3(TGFB2): c.297C> A (p.Tyr99Ter) single nucleotide variant Pathogenic rs760759052 GRCh37 Chromosome 1, 218520340: 218520340
28 TGFB2 NM_001135599.3(TGFB2): c.297C> A (p.Tyr99Ter) single nucleotide variant Pathogenic rs760759052 GRCh38 Chromosome 1, 218346998: 218346998
29 TGFB2 NM_001135599.2(TGFB2): c.988C> T (p.Arg330Cys) single nucleotide variant Pathogenic/Likely pathogenic rs869312903 GRCh37 Chromosome 1, 218609461: 218609461
30 TGFB2 NM_001135599.2(TGFB2): c.988C> T (p.Arg330Cys) single nucleotide variant Pathogenic/Likely pathogenic rs869312903 GRCh38 Chromosome 1, 218436119: 218436119
31 TGFB2 NM_001135599.3(TGFB2): c.1106_1110delACAAT (p.Tyr369Cysfs) deletion Pathogenic rs398122884 GRCh37 Chromosome 1, 218610774: 218610778
32 TGFB2 NM_001135599.3(TGFB2): c.1106_1110delACAAT (p.Tyr369Cysfs) deletion Pathogenic rs398122884 GRCh38 Chromosome 1, 218437432: 218437436
33 covers 21 genes, none of which curated to show dosage sensitivity NC_000001.10: g.(215588712_?)_(?_222145072)del deletion Pathogenic GRCh37 Chromosome 1, 215588712: 222145072
34 TGFB2 NC_000001.10: g.(216672181_?)_(?_220202575)del deletion Pathogenic GRCh37 Chromosome 1, 216672181: 220202575
35 TGFB2 NM_001135599.3(TGFB2): c.594+38_594+43dupGTTGTT duplication Conflicting interpretations of pathogenicity rs10482769 GRCh38 Chromosome 1, 218405370: 218405375
36 TGFB2 NM_001135599.3(TGFB2): c.594+38_594+43dupGTTGTT duplication Conflicting interpretations of pathogenicity rs10482769 GRCh37 Chromosome 1, 218578712: 218578717
37 TGFB3 NM_003239.4(TGFB3): c.1122C> G (p.Ala374=) single nucleotide variant Benign/Likely benign rs4252345 GRCh37 Chromosome 14, 76425647: 76425647
38 TGFB3 NM_003239.4(TGFB3): c.1122C> G (p.Ala374=) single nucleotide variant Benign/Likely benign rs4252345 GRCh38 Chromosome 14, 75959304: 75959304
39 TGFB3 NM_003239.4(TGFB3): c.873G> A (p.Pro291=) single nucleotide variant Conflicting interpretations of pathogenicity rs370006165 GRCh37 Chromosome 14, 76429712: 76429712
40 TGFB3 NM_003239.4(TGFB3): c.873G> A (p.Pro291=) single nucleotide variant Conflicting interpretations of pathogenicity rs370006165 GRCh38 Chromosome 14, 75963369: 75963369
41 TGFB3 NM_003239.4(TGFB3): c.744C> A (p.Ile248=) single nucleotide variant Conflicting interpretations of pathogenicity rs45477900 GRCh37 Chromosome 14, 76431941: 76431941
42 TGFB3 NM_003239.4(TGFB3): c.744C> A (p.Ile248=) single nucleotide variant Conflicting interpretations of pathogenicity rs45477900 GRCh38 Chromosome 14, 75965598: 75965598
43 TGFB3 NM_003239.4(TGFB3): c.420G> A (p.Glu140=) single nucleotide variant Likely benign rs878854609 GRCh38 Chromosome 14, 75971651: 75971651
44 TGFB3 NM_003239.4(TGFB3): c.420G> A (p.Glu140=) single nucleotide variant Likely benign rs878854609 GRCh37 Chromosome 14, 76437994: 76437994
45 TGFB3 NM_003239.4(TGFB3): c.412T> G (p.Ser138Ala) single nucleotide variant Uncertain significance rs201453600 GRCh38 Chromosome 14, 75971659: 75971659
46 TGFB3 NM_003239.4(TGFB3): c.412T> G (p.Ser138Ala) single nucleotide variant Uncertain significance rs201453600 GRCh37 Chromosome 14, 76438002: 76438002
47 TGFB3 NM_003239.4(TGFB3): c.357A> G (p.Glu119=) single nucleotide variant Likely benign rs748598952 GRCh38 Chromosome 14, 75971714: 75971714
48 TGFB3 NM_003239.4(TGFB3): c.357A> G (p.Glu119=) single nucleotide variant Likely benign rs748598952 GRCh37 Chromosome 14, 76438057: 76438057
49 TGFB3 NM_003239.4(TGFB3): c.179C> T (p.Thr60Met) single nucleotide variant Likely benign rs4252315 GRCh38 Chromosome 14, 75980715: 75980715
50 TGFB3 NM_003239.4(TGFB3): c.179C> T (p.Thr60Met) single nucleotide variant Likely benign rs4252315 GRCh37 Chromosome 14, 76447058: 76447058

Expression for Loeys-Dietz Syndrome 4

Search GEO for disease gene expression data for Loeys-Dietz Syndrome 4.

Pathways for Loeys-Dietz Syndrome 4

Pathways related to Loeys-Dietz Syndrome 4 according to GeneCards Suite gene sharing:

(show top 50) (show all 67)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.6 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
2
Show member pathways
13.48 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
3
Show member pathways
13.45 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
4
Show member pathways
13.35 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
5
Show member pathways
13.33 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
6
Show member pathways
13.17 TGFB2 TGFB3 TGFBR1 TGFBR2
7
Show member pathways
13.14 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
8
Show member pathways
12.89 SMAD3 TGFB2 TGFB3 TGFBR1
9
Show member pathways
12.89 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
10
Show member pathways
12.78 TGFB2 TGFB3 TGFBR1 TGFBR2
11
Show member pathways
12.77 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
12 12.74 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
13
Show member pathways
12.73 TGFB2 TGFB3 TGFBR1 TGFBR2
14
Show member pathways
12.66 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
15 12.65 TGFB2 TGFB3 TGFBR1 TGFBR2
16
Show member pathways
12.63 SMAD3 TGFBR1 TGFBR2
17
Show member pathways
12.51 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
18
Show member pathways
12.45 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
19
Show member pathways
12.4 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
20 12.35 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
21 12.27 SMAD3 TGFBR1 TGFBR2
22 12.24 SMAD3 TGFB2 TGFB3
23 12.2 SMAD3 TGFB2 TGFB3 TGFBR1
24
Show member pathways
12.18 SMAD3 TGFBR1 TGFBR2
25
Show member pathways
12.18 SMAD3 TGFB2 TGFBR1 TGFBR2
26
Show member pathways
12.11 TGFB2 TGFB3 TGFBR1
27 12.09 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
28 12.06 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
29
Show member pathways
12.03 SMAD3 TGFBR1 TGFBR2
30 12.02 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
31 11.99 SMAD3 TGFBR1 TGFBR2
32
Show member pathways
11.99 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
33 11.99 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
34 11.97 TGFB2 TGFBR1 TGFBR2
35
Show member pathways
11.94 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
36
Show member pathways
11.88 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
37
Show member pathways
11.82 SMAD3 TGFBR1 TGFBR2
38 11.8 TGFB2 TGFB3 TGFBR1
39
Show member pathways
11.73 SMAD3 TGFBR1 TGFBR2
40 11.7 SMAD3 TGFBR1 TGFBR2
41 11.7 SMAD3 TGFBR1 TGFBR2
42
Show member pathways
11.68 SMAD3 TGFBR1 TGFBR2
43 11.65 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
44 11.63 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
45
Show member pathways
11.6 TGFB2 TGFB3
46 11.59 TGFB2 TGFB3
47 11.59 SMAD3 TGFBR1 TGFBR2
48 11.54 SMAD3 TGFB3 TGFBR1 TGFBR2
49 11.54 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
50 11.52 TGFB2 TGFB3

GO Terms for Loeys-Dietz Syndrome 4

Cellular components related to Loeys-Dietz Syndrome 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 platelet alpha granule lumen GO:0031093 9.16 TGFB2 TGFB3
2 receptor complex GO:0043235 9.13 SMAD3 TGFBR1 TGFBR2
3 transforming growth factor beta receptor complex GO:0070022 8.62 TGFBR1 TGFBR2

Biological processes related to Loeys-Dietz Syndrome 4 according to GeneCards Suite gene sharing:

(show top 50) (show all 60)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.93 TGFB2 TGFB3 TGFBR1 TGFBR2
2 negative regulation of cell proliferation GO:0008285 9.9 SMAD3 TGFB2 TGFB3 TGFBR2
3 heart development GO:0007507 9.84 TGFB2 TGFBR1 TGFBR2
4 regulation of cell proliferation GO:0042127 9.83 TGFB2 TGFB3 TGFBR2
5 skeletal system development GO:0001501 9.82 SMAD3 TGFB2 TGFBR1
6 cell cycle arrest GO:0007050 9.8 SMAD3 TGFB2 TGFBR1
7 in utero embryonic development GO:0001701 9.8 SMAD3 TGFB3 TGFBR1 TGFBR2
8 response to hypoxia GO:0001666 9.76 SMAD3 TGFB2 TGFB3 TGFBR2
9 SMAD protein signal transduction GO:0060395 9.74 SMAD3 TGFB2 TGFB3
10 positive regulation of cell growth GO:0030307 9.73 TGFB2 TGFBR1
11 regulation of growth GO:0040008 9.73 TGFBR1 TGFBR2
12 pattern specification process GO:0007389 9.72 TGFBR1 TGFBR2
13 response to estrogen GO:0043627 9.72 TGFB3 TGFBR2
14 peptidyl-threonine phosphorylation GO:0018107 9.72 TGFBR1 TGFBR2
15 cellular response to transforming growth factor beta stimulus GO:0071560 9.72 SMAD3 TGFBR1
16 cell development GO:0048468 9.72 TGFB2 TGFB3
17 positive regulation of stress fiber assembly GO:0051496 9.72 SMAD3 TGFB3 TGFBR1
18 heart looping GO:0001947 9.71 SMAD3 TGFBR2
19 regulation of MAPK cascade GO:0043408 9.71 TGFB2 TGFB3
20 inner ear development GO:0048839 9.71 TGFB2 TGFB3
21 positive regulation of cell division GO:0051781 9.71 TGFB2 TGFB3
22 collagen fibril organization GO:0030199 9.71 TGFB2 TGFBR1
23 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.71 TGFB2 TGFB3 TGFBR1
24 extrinsic apoptotic signaling pathway GO:0097191 9.7 SMAD3 TGFB2
25 positive regulation of protein secretion GO:0050714 9.7 TGFB2 TGFB3
26 epithelial to mesenchymal transition GO:0001837 9.7 TGFB2 TGFBR1
27 lens development in camera-type eye GO:0002088 9.7 TGFBR1 TGFBR2
28 positive regulation of epithelial cell migration GO:0010634 9.69 TGFB2 TGFBR2
29 gastrulation GO:0007369 9.69 SMAD3 TGFBR2
30 response to progesterone GO:0032570 9.69 TGFB2 TGFB3
31 ventricular septum morphogenesis GO:0060412 9.69 TGFB2 TGFBR1 TGFBR2
32 digestive tract development GO:0048565 9.68 TGFB3 TGFBR2
33 odontogenesis GO:0042476 9.68 TGFB2 TGFB3
34 positive regulation of bone mineralization GO:0030501 9.68 SMAD3 TGFB3
35 positive regulation of filopodium assembly GO:0051491 9.68 TGFB3 TGFBR1
36 outflow tract septum morphogenesis GO:0003148 9.67 TGFB2 TGFBR2
37 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.67 SMAD3 TGFB2
38 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.66 TGFBR1 TGFBR2
39 activin receptor signaling pathway GO:0032924 9.66 SMAD3 TGFBR1
40 ventricular trabecula myocardium morphogenesis GO:0003222 9.65 TGFB2 TGFBR1
41 embryonic cranial skeleton morphogenesis GO:0048701 9.65 SMAD3 TGFBR1 TGFBR2
42 cardiac epithelial to mesenchymal transition GO:0060317 9.64 TGFB2 TGFBR1
43 atrioventricular valve morphogenesis GO:0003181 9.64 TGFB2 TGFBR2
44 positive regulation of SMAD protein signal transduction GO:0060391 9.63 TGFB3 TGFBR1
45 membranous septum morphogenesis GO:0003149 9.62 TGFB2 TGFBR2
46 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.62 SMAD3 TGFB3 TGFBR1 TGFBR2
47 response to cholesterol GO:0070723 9.61 TGFBR1 TGFBR2
48 salivary gland morphogenesis GO:0007435 9.61 TGFB2 TGFB3
49 cell-cell junction organization GO:0045216 9.61 SMAD3 TGFB2 TGFB3
50 negative regulation of macrophage cytokine production GO:0010936 9.59 TGFB2 TGFB3

Molecular functions related to Loeys-Dietz Syndrome 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein heterodimerization activity GO:0046982 9.65 SMAD3 TGFB2 TGFB3
2 SMAD binding GO:0046332 9.5 SMAD3 TGFBR1 TGFBR2
3 growth factor binding GO:0019838 9.46 TGFBR1 TGFBR2
4 transforming growth factor beta-activated receptor activity GO:0005024 9.43 TGFBR1 TGFBR2
5 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.4 TGFBR1 TGFBR2
6 type I transforming growth factor beta receptor binding GO:0034713 9.37 TGFB3 TGFBR2
7 transforming growth factor beta receptor binding GO:0005160 9.33 SMAD3 TGFB2 TGFB3
8 type III transforming growth factor beta receptor binding GO:0034714 9.26 TGFB2 TGFB3
9 transforming growth factor beta binding GO:0050431 9.13 TGFB3 TGFBR1 TGFBR2
10 type II transforming growth factor beta receptor binding GO:0005114 8.8 TGFB2 TGFB3 TGFBR1

Sources for Loeys-Dietz Syndrome 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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